Linked Data
ClinVar Variation Id:
256247
dbSNP Id:
rs5878
ExAC:
1:173878832 T / C
gnomAD v2:
1-173878832-T-C
gnomAD v3:
1-173909694-T-C
gnomAD v4:
1-173909694-T-C
ERepo:
CA1251296/MONDO:0013144/084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909694T>C , CM000663.2:g.173909694T>C | GRCh38 |
| NC_000001.10:g.173878832T>C , CM000663.1:g.173878832T>C | GRCh37 |
| NC_000001.9:g.172145455T>C | NCBI36 |
| NG_012462.1:g.12685A>G , LRG_577:g.12685A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1011A>G MANE Select | ENSP00000356671.3:p.Gln337= | |
| ENST00000367698.3:c.1011A>G | ENSP00000356671.3:p.Gln337= | |
| ENST00000617423.4:c.559+2170A>G | ENSP00000478688.1:n.559+2170A>G | |
| NM_000488.3:c.1011A>G , LRG_577t1:c.1011A>G | NP_000479.1:p.Gln337= | |
| XM_005245198.2:c.867A>G | XP_005245255.1:p.Gln289= | |
| NM_001365052.1:c.867A>G | NP_001351981.1:p.Gln289= | |
| NM_000488.4:c.1011A>G MANE Select | NP_000479.1:p.Gln337= | |
| NM_001365052.2:c.867A>G | NP_001351981.1:p.Gln289= | |
| NM_001386302.1:c.1134A>G | NP_001373231.1:p.Gln378= | |
| NM_001386303.1:c.1092A>G | NP_001373232.1:p.Gln364= | |
| NM_001386304.1:c.990A>G | NP_001373233.1:p.Gln330= | |
| NM_001386305.1:c.954A>G | NP_001373234.1:p.Gln318= | |
| NM_001386306.1:c.795A>G | NP_001373235.1:p.Gln265= |